Varaico: Literature-Extracted Genetic Variants

LDLR

2,667 papers

RefSeq Summary

The low density lipoprotein receptor (LDLR) gene family consists of cell surface proteins involved in receptor-mediated endocytosis of specific ligands. The encoded protein is normally bound at the ce...

Pfam Domains

Ldl_recept_aaa 25–63UCSCLow-density lipoprotein receptor domain class A

Ldl_recept_aaa 66–104UCSCLow-density lipoprotein receptor domain class A

Ldl_recept_aaa 107–143UCSCLow-density lipoprotein receptor domain class A

Ldl_recept_aaa 146–184UCSCLow-density lipoprotein receptor domain class A

Ldl_recept_aaa 195–231UCSCLow-density lipoprotein receptor domain class A

Ldl_recept_aaa 234–270UCSCLow-density lipoprotein receptor domain class A

Gene Aliases

HGNC Name

low density lipoprotein receptor

HGNC Alias Symbol

LDLCQ2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

4 papers

NM_000527.5

p.D700E

c.2100C>G

Surrounding Variants

4 papers

NM_000527.5

p.D700E

c.2100C>A

2 papers

NM_000527.5

p.G701delFs

c.2102delG

13 papers

NM_000527.5

p.D700G

c.2099A>G

12 papers

NM_000527.5

p.G701S

c.2101G>A

1 paper

NM_000527.5

p.G701fs

c.2101_2102fs

8 papers

NM_000527.5

p.D700N

c.2098G>A

1 paper

NM_000527.5

p.G701D

c.2102G>A

4 papers

NM_000527.5

p.G701V

c.2102G>T

1 paper

NM_000527.5

p.M702V

c.2104A>G

31 papers

NM_000527.5

p.P699L

c.2096C>T

1 paper

NM_000527.5

p.P699fs

c.2095_2096fs

1 paper

NM_000527.5

p.M702T

c.2105T>C